酸脱酶缺乏细胞癌与类和类特征-一个诊断困境
Namra Ajmal1, Costas D Lallas2, Peter McCue3
1Department of Pathology and Genomic Medicine, Thomas Jefferson University Hospital, Philadelphia, PA, USA.
International journal of surgical pathology
|February 5, 2024
概括
本案例研究详细介绍了一名年轻女性罕见的,激进的乳酸脱酶 (SDH) 缺陷细胞癌 (RCC) 的形式. 瘤表现出不寻常的高度特征,导致快速转移和不良预后.
科学领域:
- 在瘤学瘤学.
- 病理学 病理学 病理学
- 遗传学 遗传学 是一个
背景情况:
- 酸脱酶 (SDH) 缺陷细胞癌 (RCC) 是一种罕见的上皮瘤,其特征是SDH复合体子单元中的双基突变.
- 通常情况下,SDH缺乏的RCC呈现低度形态和良好的预后,使得攻击性变体不常见.
研究的目的:
- 报告第一个SDH缺乏RCC的病例,同时具有rhabdoid和sarcomatoid特征.
- 审查高度SDH缺乏RCC的诊断挑战.
- 讨论侵略性特征对预后的影响.
主要方法:
- 一个36岁的女性患有症状性贫血和右质量的病例介绍.
- 图像检查显示,质异质,血管侵袭.
- 显微镜检查显示了焦点低度区域,具有广泛的高度rhabdoid和sarcomatoid脱差.
- 免疫组织化学证实了SDHB染色的丧失.
主要成果:
- 瘤表现出广泛的高度特征 (85%的形,10%的形) 尽管焦点低度区域 (5%).
- 细胞质内含物,细胞外粘素,凝固性亡和炎症透物的存在.
- 瘤细胞对AE1/AE3.3具有焦点阳性.
- 失去了SDHB免疫染证实了SDH缺乏RCC的诊断.
结论:
- 缺乏SDH的RCC可以呈现出高度的侵略性形态,具有挑战性的诊断.
- 类转变和凝固性亡与转移风险的增加有关.
- 在发生生殖系突变的情况下,建议对其他SDH缺陷瘤进行监测.
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